Varaico: Literature-Extracted Genetic Variants

ABCB4

633 papers

RefSeq Summary

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellul...

Pfam Domains

ABC_membraneaa 57–345UCSCABC transporter transmembrane region

ABC_tranaa 412–561UCSCABC transporter

ABC_membraneaa 711–985UCSCABC transporter transmembrane region

ABC_tranaa 1052–1210UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily B member 4

HGNC Previous Symbols

PGY3; MDR3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000443.4

p.L518fs

c.1552_1553fs

Surrounding Variants

1 paper

NM_000443.4

p.L518V

c.1552T>G

5 papers

NM_000443.4

p.L518delFs

c.1553delA

1 paper

NM_000443.4

p.Q520*

c.1558C>T

3 papers

NM_000443.4

p.M516V

c.1546A>G

3 papers

NM_000443.4

p.Q520_K521Splc

c.1560+2T>A

1 paper

NM_000443.4

p.Q520_K521Splc

c.1560+3A>G

1 paper

NM_000443.4

p.F514L

c.1540T>C

4 papers

NM_000443.4

p.Q520_K521Splc

c.1560+6G>A

3 papers

NM_000443.4

p.E513K

c.1537G>A

9 papers

NM_000443.4

p.A511T

c.1531G>A

30 papers

NM_000443.4

p.N510S

c.1529A>G

3 papers

NM_000443.4

p.N510T

c.1529A>C